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Aliases for CNGA1 Gene

Aliases for CNGA1 Gene

  • Cyclic Nucleotide Gated Channel Alpha 1 2 3
  • CNCG1 3 4 6
  • Rod Photoreceptor CGMP-Gated Channel Subunit Alpha 3 4
  • Cyclic Nucleotide-Gated Channel, Photoreceptor 3 4
  • Cyclic Nucleotide-Gated Cation Channel 1 3 4
  • Cyclic Nucleotide-Gated Channel Alpha-1 3 4
  • CNG Channel Alpha-1 3 4
  • CNG-1 3 4
  • CNCG 3 4
  • RP49 3 6
  • CNG1 3 4
  • CGMP-Gated Cation Channel Alpha-1 3
  • Interleukin-1 Homologue 3
  • RCNCalpha 3
  • RCNC1 3
  • RCNCa 3

External Ids for CNGA1 Gene

Previous Symbols for CNGA1 Gene

  • CNCG1
  • CNCG

Summaries for CNGA1 Gene

Entrez Gene Summary for CNGA1 Gene

  • The protein encoded by this gene is involved in phototransduction. Along with another protein, the encoded protein forms a cGMP-gated cation channel in the plasma membrane, allowing depolarization of rod photoreceptors. This represents the last step in the phototransduction pathway. Defects in this gene are a cause of retinitis pigmentosa autosomal recessive (ARRP) disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

GeneCards Summary for CNGA1 Gene

CNGA1 (Cyclic Nucleotide Gated Channel Alpha 1) is a Protein Coding gene. Diseases associated with CNGA1 include retinitis pigmentosa 49 and cnga1-related retinitis pigmentosa. Among its related pathways are Signaling by GPCR and Disease. GO annotations related to this gene include voltage-gated potassium channel activity and intracellular cAMP activated cation channel activity. An important paralog of this gene is KCNH1.

UniProtKB/Swiss-Prot for CNGA1 Gene

  • Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cyclic GMP which leads to an opening of the cation channel and thereby causing a depolarization of rod photoreceptors

Gene Wiki entry for CNGA1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CNGA1 Gene

Genomics for CNGA1 Gene

Genomic Location for CNGA1 Gene

Start:
47,935,977 bp from pter
End:
48,016,672 bp from pter
Size:
80,696 bases
Orientation:
Minus strand

Genomic View for CNGA1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CNGA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CNGA1 Gene

Regulatory Elements for CNGA1 Gene

Proteins for CNGA1 Gene

  • Protein details for CNGA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P29973-CNGA1_HUMAN
    Recommended name:
    cGMP-gated cation channel alpha-1
    Protein Accession:
    P29973
    Secondary Accessions:
    • A8K7K6
    • J3KPZ2
    • Q16279
    • Q16485
    • Q4W5E3

    Protein attributes for CNGA1 Gene

    Size:
    690 amino acids
    Molecular mass:
    79586 Da
    Quaternary structure:
    • Tetramer formed of three CNGA1 and one CNGB1 modulatory subunits.
    SequenceCaution:
    • Sequence=AAB22778.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for CNGA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CNGA1 Gene

Proteomics data for CNGA1 Gene at MOPED

Post-translational modifications for CNGA1 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn425

Other Protein References for CNGA1 Gene

No data available for DME Specific Peptides for CNGA1 Gene

Domains for CNGA1 Gene

Gene Families for CNGA1 Gene

HGNC:
  • CNG :Voltage-gated ion channels / Cyclic nucleotide-regulated channels
IUPHAR :

Suggested Antigen Peptide Sequences for CNGA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P29973

UniProtKB/Swiss-Prot:

CNGA1_HUMAN
Domain:
  • The C-terminal coiled-coil domain mediates homotrimerization of CNGA subunits.:
    • P29973
  • Contains 1 cyclic nucleotide-binding domain.:
    • P29973
Family:
  • Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGA1 subfamily.:
    • P29973
genes like me logo Genes that share domains with CNGA1: view

Function for CNGA1 Gene

Molecular function for CNGA1 Gene

GENATLAS Biochemistry: cyclic guanine nucleotide gated channel (cGMP),rod photoreceptor,expressed in the rod outer segment alpha 1 subunit,heterodimerizing with CNGB4
UniProtKB/Swiss-Prot Function: Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cyclic GMP which leads to an opening of the cation channel and thereby causing a depolarization of rod photoreceptors

Gene Ontology (GO) - Molecular Function for CNGA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity --
GO:0005222 intracellular cAMP activated cation channel activity IBA --
GO:0005223 intracellular cGMP activated cation channel activity IBA --
GO:0005249 voltage-gated potassium channel activity IBA --
GO:0005515 protein binding IPI 20890309
genes like me logo Genes that share ontologies with CNGA1: view

Phenotypes for CNGA1 Gene

genes like me logo Genes that share phenotypes with CNGA1: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for CNGA1 Gene

Localization for CNGA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CNGA1 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CNGA1 Gene COMPARTMENTS Subcellular localization image for CNGA1 gene
Compartment Confidence
plasma membrane 4
cytosol 1

Gene Ontology (GO) - Cellular Components for CNGA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 7479749
GO:0016020 membrane --
GO:0042622 photoreceptor outer segment membrane IEA --
genes like me logo Genes that share ontologies with CNGA1: view

Pathways for CNGA1 Gene

genes like me logo Genes that share pathways with CNGA1: view

Gene Ontology (GO) - Biological Process for CNGA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 7479749
GO:0006811 ion transport --
GO:0007601 visual perception IEA --
GO:0007603 phototransduction, visible light TAS --
GO:0016056 rhodopsin mediated signaling pathway TAS --
genes like me logo Genes that share ontologies with CNGA1: view

Compounds for CNGA1 Gene

(1) HMDB Compounds for CNGA1 Gene

Compound Synonyms Cas Number PubMed IDs
Cyclic GMP
  • 3',5'-cyclic GMP
7665-99-8

(2) IUPHAR Ligand for CNGA1 Gene

Ligand Type Action Affinity Pubmed IDs
L-(cis)-diltiazem Pore Blocker Antagonist 4
cGMP Activator Activation
genes like me logo Genes that share compounds with CNGA1: view

Transcripts for CNGA1 Gene

Unigene Clusters for CNGA1 Gene

Cyclic nucleotide gated channel alpha 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CNGA1 Gene

No ASD Table

Relevant External Links for CNGA1 Gene

GeneLoc Exon Structure for
CNGA1
ECgene alternative splicing isoforms for
CNGA1

Expression for CNGA1 Gene

mRNA expression in normal human tissues for CNGA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CNGA1 Gene

This gene is overexpressed in Liver (8.0) and Esophagus - Mucosa (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CNGA1 Gene

SOURCE GeneReport for Unigene cluster for CNGA1 Gene Hs.1323

mRNA Expression by UniProt/SwissProt for CNGA1 Gene

P29973-CNGA1_HUMAN
Tissue specificity: Rod cells in the retina
genes like me logo Genes that share expressions with CNGA1: view

Orthologs for CNGA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CNGA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CNGA1 35
  • 99.43 (n)
  • 99.74 (a)
CNGA1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CNGA1 35
  • 88.29 (n)
  • 89.21 (a)
CNGA1 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CNGA1 35
  • 89.34 (n)
  • 90.07 (a)
CNGA1 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cnga1 35
  • 85.88 (n)
  • 89.12 (a)
Cnga1 16
Cnga1 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CNGA1 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CNGA1 36
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cnga1 35
  • 85.49 (n)
  • 89.71 (a)
chicken
(Gallus gallus)
Aves CNGA1 35
  • 76.08 (n)
  • 80.32 (a)
CNGA1 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CNGA1 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cnga1 35
  • 72.22 (n)
  • 74.39 (a)
zebrafish
(Danio rerio)
Actinopterygii cnga1 35
  • 68.66 (n)
  • 75.9 (a)
cnga1 36
  • 70 (a)
OneToMany
CNGA1 (2 of 2) 36
  • 60 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Cng 36
  • 36 (a)
OneToMany
Cng 37
  • 53 (a)
CG3536 37
  • 59 (a)
cngl 37
  • 43 (a)
worm
(Caenorhabditis elegans)
Secernentea che-6 36
  • 27 (a)
ManyToMany
cng-1 36
  • 31 (a)
ManyToMany
cng-2 36
  • 22 (a)
ManyToMany
cng-3 36
  • 23 (a)
ManyToMany
tax-4 36
  • 41 (a)
ManyToMany
C23H5.7 37
  • 30 (a)
wrt-3 37
  • 24 (a)
Y76B12C.1 37
  • 29 (a)
F14H8.6 37
  • 34 (a)
tax-4 37
  • 51 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 58 (a)
OneToMany
Species with no ortholog for CNGA1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CNGA1 Gene

ENSEMBL:
Gene Tree for CNGA1 (if available)
TreeFam:
Gene Tree for CNGA1 (if available)

Paralogs for CNGA1 Gene

Selected SIMAP similar genes for CNGA1 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for CNGA1 Gene

genes like me logo Genes that share paralogs with CNGA1: view

Variants for CNGA1 Gene

Sequence variations from dbSNP and Humsavar for CNGA1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs188900 -- 47,999,323(+) gcaga(A/T)aaaag intron-variant
rs188901 -- 48,009,795(+) gcgaa(A/G)ctcca intron-variant
rs224800 -- 48,007,101(+) cttaa(C/T)tttct intron-variant
rs224801 -- 48,010,800(+) ttgcc(A/G)gatcc utr-variant-5-prime, intron-variant
rs321624 -- 47,993,966(-) tggaa(A/T)ttaaa intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CNGA1 Gene

Variant ID Type Subtype PubMed ID
esv2727534 CNV Deletion 23290073
esv2498611 CNV Deletion 19546169
esv2727535 CNV Deletion 23290073
esv2174980 CNV Deletion 18987734
esv2727536 CNV Deletion 23290073
nsv290106 CNV Loss 16902084
nsv509895 CNV Loss 20534489
esv2663876 CNV Deletion 23128226

Relevant External Links for CNGA1 Gene

HapMap Linkage Disequilibrium report
CNGA1
Human Gene Mutation Database (HGMD)
CNGA1
Locus Specific Mutation Databases (LSDB)
CNGA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CNGA1 Gene

Disorders for CNGA1 Gene

(1) OMIM Diseases for CNGA1 Gene (123825)

UniProtKB/Swiss-Prot

CNGA1_HUMAN
  • Retinitis pigmentosa 49 (RP49) [MIM:613756]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:15570217, ECO:0000269 PubMed:7479749}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for CNGA1 Gene

(1) Novoseek inferred disease relationships for CNGA1 Gene

Disease -log(P) Hits PubMed IDs
retinitis pigmentosa 66.1 2

Relevant External Links for CNGA1

Genetic Association Database (GAD)
CNGA1
Human Genome Epidemiology (HuGE) Navigator
CNGA1
genes like me logo Genes that share disorders with CNGA1: view

Publications for CNGA1 Gene

  1. Human rod photoreceptor cGMP-gated channel: amino acid sequence, gene structure, and functional expression. (PMID: 1379636) Dhallan R.S. … Nathans J. (J. Neurosci. 1992) 3 4 23
  2. Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa. (PMID: 12362048) Paloma E. … Balcells S. (J. Med. Genet. 2002) 3 23
  3. Primary structure and chromosomal localization of human and mouse rod photoreceptor cGMP-gated cation channel. (PMID: 1372902) Pittler S.J. … Baehr W. (J. Biol. Chem. 1992) 3 4
  4. Mutations in the gene encoding the alpha subunit of the rod cGMP- gated channel in autosomal recessive retinitis pigmentosa. (PMID: 7479749) Dryja T.P. … Yau K.-W. (Proc. Natl. Acad. Sci. U.S.A. 1995) 3 4
  5. Expression of cyclic nucleotide-gated cation channels in non-sensory tissues and cells. (PMID: 7532814) Distler M. … Hofmann F. (Neuropharmacology 1994) 3 4

Products for CNGA1 Gene

Sources for CNGA1 Gene

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